| 应用PCR技术进行常染色体显性遗传多囊肾病家系的基因诊断 |
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| 引用本文： | 朱世乐,张宏,白千帆,李少英,刘玉春,王海燕.应用PCR技术进行常染色体显性遗传多囊肾病家系的基因诊断[J].北京大学学报(医学版),1996(6). |
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| 作者姓名： | 朱世乐 张宏 白千帆 李少英 刘玉春 王海燕 |
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| 作者单位： | 北京医科大学第一医院肾内科 |
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| 摘 要： | 目的：用ＰＣＲ方法对中国的常染色体显性遗传多囊肾病（ＡＤＰＫＤ）家系进行基因诊断。方法：提取基因组ＤＮＡ，用ＰＣＲ方法扩增与ＰＫＤ１位点连锁的高度多态性的微小卫星体ＤＮＡ（ＳＭ７，ＡＣ２．５，ＳＭ６，ＫＧ８）为遗传标记，进行家系分析。对２２个ＡＤＰＫＤ家系的１５６个成员（包括６８个患者）找出染色体上与疾病连锁的单体型，进行了连锁分析。结果：２１个被测家系提供了基因诊断信息；另一个家系显示重组或不连锁。结论：能够采用ＰＣＲ方法对中国的ＡＤＰＫＤ家系进行基因诊断。
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| 关 键 词： | 聚合酶链反应，肾，多囊，常染色体显性／诊断，遗传标志 |
GENE DIAGNOSIS OF CHINESE FAMILISES WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNHEY DISEASE USING PCR METHOD |
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| ZHU Shile ,ZHANG Hong,BAI Qianfan,LI Shaoying,LIU Yuchun,WANG Haiyan.GENE DIAGNOSIS OF CHINESE FAMILISES WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNHEY DISEASE USING PCR METHOD[J].Journal of Peking University:Health Sciences,1996(6). |
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| Authors: | ZHU Shile ZHANG Hong BAI Qianfan LI Shaoying LIU Yuchun WANG Haiyan |
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| Abstract: | Objective:Gene diagaosis of Chinese families with autosomal dominant polycystic kidney dis-ease,Methods:Genomic DNA were extracted.Highly polymorphic microsatellite markers(SM7, AC 2.5,SM6,KG8)linked to the PKD1 were amplified using PCR.Twenty-two Chinese ADPKD families(156 members,including 68 affected were analysed).Results:Twenty-one examined families were fully informative for linkage analysis.The other one family showed a recombination event or unlinked evi-dence. Conclusion:Gene diagnosis could be done in Chinese families with ADPKD using PCR method. |
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| Keywords: | Polymerase chain reaction Kidney polycystic autosomal dominant/diag Genetic marker |
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